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Clinica Chimica Acta：4例线粒体3-羟基-3-甲基戊二酰辅酶a合成酶缺乏新患者的临床、生化、分子和治疗特点

2020-07-19 MedSci原创 MedSci原创

线粒体3-羟基-3-甲基戊二酰辅酶a合成酶缺乏新患者
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目前，仅已知30例线粒体3-羟基-3-甲基glutaryl- coa合成酶(HMGCS)缺乏患者，这是一种罕见的由HMGCS2基因突变引起的常染色体隐性遗传病。在此，我们介绍了四位新患此病的患者。

目前，仅已知30例线粒体3-羟基-3-甲基glutaryl- coa合成酶(HMGCS)缺乏患者，这是一种罕见的由HMGCS2基因突变引起的常染色体隐性遗传病。在此，我们介绍了四位新患此病的患者。

本研究记录了患者的几种代谢物的特征。采用下一代靶向测序和PCR扩增产物的多重序列比对分析HMGCS2的突变。同时，采用小基因检测转录本分析证实了剪接位点突变的致病性。

所有病例均有感染复发，但在间息期间无症状。患者1，女，8个月大感染后复发严重代谢性酸中毒，表现为虚弱、呕吐、嗜睡，但血糖正常。经过治疗，她完全苏醒了。患者2、3和4为男孩，分别在8个月、27个月和10个月时出现低血糖。葡萄糖输注逆转了症状所有四名患者均有肝肿大，腹部影像学显示脂肪肝。血清游离脂肪酸增加。患者出现尿二羧酸和尿4-羟基-6-甲基-2-吡喃酮，通过HMGCS2基因分析确认诊断，并发现该基因的7个突变（p.R188H，p.F420S，p.R206C，IVS2 + 1G> T，p.E401 *，p.A450Pfs * 7和p.Q427 *）。。

在此，我们报告了4例HMGCS缺乏的新患者的特征和遗传学。本研究将丰富我们对这种罕见的常染色体隐性遗传病的认识。

原始出处：

QiaoWang，Yan-LingYang，Clinical, biochemical, molecular and therapeutic characteristics of four new patients of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency

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    2021-05-21 windight

    #CTA#

    0

  2. [GetPortalCommentsPageByObjectIdResponse(id=1849977, encodeId=558a18499e7bf, content=<a href='/topic/show?id=61815385aa' target=_blank style='color:#2F92EE;'>#CTA#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=28, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=5385, encryptionId=61815385aa, topicName=CTA)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=ec9955, createdName=windight, createdTime=Fri May 21 23:17:22 CST 2021, time=2021-05-21, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=2082851, encodeId=dad62082851f4, content=<a href='/topic/show?id=62bb93e196b' target=_blank style='color:#2F92EE;'>#辅酶A#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=41, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=93719, encryptionId=62bb93e196b, topicName=辅酶A)], attachment=null, authenticateStatus=null, createdAvatar=http://thirdwx.qlogo.cn/mmopen/vi_32/PiajxSqBRaEKxsKDoOOFxGpMibw6lsQFUIicWt7kWGevkdgFhjiban1icD2JdIBmjVo7qX7aSlCSpiaia382nuLKiaI3Cg/132, createdBy=5c442500150, createdName=ms9474365431325850, createdTime=Sun Feb 14 05:17:22 CST 2021, time=2021-02-14, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=803355, encodeId=fe9e80335581, content=学习, beContent=null, objectType=article, channel=null, level=null, likeNumber=84, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20200719/1ad91ae4aea744ed805539b8760d735e/b4b81163d2254ac7bdc539879377729c.jpg, createdBy=24945401492, createdName=钟沛霖, createdTime=Sun Jul 19 18:45:42 CST 2020, time=2020-07-19, status=1, ipAttribution=)]
    2021-02-14 ms9474365431325850

    #辅酶A#

    0

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    2020-07-19 钟沛霖

    学习

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